Observational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder

Running, not enrolling

Conditions studied: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

In brief

Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.

Key facts

Study ID

NCT05373719

Run by

Loulou Foundation

People needed

112

Starts

2022-09-30

Expected to finish

2027-01-20

Last updated by the study team

2025-03-10

Who can join

Age: any, up to 55. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
• Ages newborn to 55 years old
• Parent/Caregiver who is willing and capable of providing written informed consent
• Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study

You may not qualify if…

• Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD).
• Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate
• Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study

Where it is running

• UCLA Mattel Children's Hospital — Los Angeles, California, United States
• Children's Hospital Colorado — Aurora, Colorado, United States
• Center for Rare Neurological Diseases — Norcross, Georgia, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• New York University — New York, New York, United States
• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States
• The Cleveland Clinic — Cleveland, Ohio, United States
• Childrens Hospital of Philadlephia Division of Neurology — Philadelphia, Pennsylvania, United States
• Baylor College of Medicine — Houston, Texas, United States
• Alberta Children's Hospital, Pediatric Epilepsy and Child Neurology — Calgary, Canada
• The Hospital of Sick Children — Toronto, Canada
• Hopital Necker- Enfants Malades — Paris, France
• DRK Berlin - Epilepsiezentrum und Neuropädiatrie — Berlin, Germany
• Schön Klinik Vogtareuth — Vogtareuth, Germany
• Azienda Ospedaliero-Universitaria Meyer — Florence, Italy
• Fondazione Policlinico Universitario A Gemelli, IRCCS — Roma, Italy
• Ospedale Pediatrico Bambino Gesù — Rome, Italy
• Azienda Ospedaliera Universitaria Integrata di Verona — Verona, Italy
• Hospital Infantil Universitario Niño Jesús — Madrid, Spain
• Ruber Internacional Hospital — Madrid, Spain
• Hospital UniversitarioVithas Madrid — Madrid, Spain
• Ruber Internacional Hospital — Madrid, Spain
• Mediclinic — Dubai, United Arab Emirates

Full record on ClinicalTrials.gov

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